A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051149



Internal ID18793680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:464704..496799hg38UCSC Ensembl
Innerchr12:573870..605965hg19UCSC Ensembl
Innerchr12:444131..476226hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3832096
hg1932096
hg1832096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1332n100
Supporting Variantsnssv3710810
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051149
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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